### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LEPR) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "LEPR" "leptin receptor" "1" "p31" "unknown" "LRG_283" "UD_132118444127" "" "https://www.LOVD.nl/LEPR" "" "1" "6554" "3953" "601007" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LEPR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-19 21:32:49" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011065" "LEPR" "transcript variant 1" "001" "NM_002303.5" "" "NP_002294.2" "" "" "" "-185" "3976" "3498" "65886335" "66103176" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00" "03800" "LEPRD" "deficiency, leptin receptor" "AR" "614963" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LEPR" "03800" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00155261" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F95" "00155262" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F96" "00155263" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F80" "00155264" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F129" "00155265" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F146" "00155266" "" "" "" "1" "" "00006" "{PMID:Saeed 2015:26179253}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "26179253-F81" "00289911" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00155261" "00259" "00155262" "00259" "00155263" "00259" "00155264" "00259" "00155265" "00259" "00155266" "00259" "00289911" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00259, 03800 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000127784" "00259" "00155261" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" "0000127785" "00259" "00155262" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" "0000127786" "00259" "00155263" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" "0000127787" "00259" "00155264" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" "0000127788" "00259" "00155265" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" "0000127789" "00259" "00155266" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "severe early onset obesity" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156125" "00155261" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156126" "00155262" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156127" "00155263" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156128" "00155264" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156129" "00155265" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000156130" "00155266" "1" "00006" "00006" "2018-03-19 21:43:42" "" "" "SEQ" "DNA" "" "" "0000291079" "00289911" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000156125" "LEPR" "0000156126" "LEPR" "0000156127" "LEPR" "0000156128" "LEPR" "0000156129" "LEPR" "0000156130" "LEPR" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 111 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000251101" "0" "10" "1" "66036441" "66036441" "subst" "0.29613" "02326" "LEPR_000002" "g.66036441A>G" "" "" "" "LEPR(NM_001003679.3):c.326A>G (p.K109R), LEPR(NM_001198688.1):c.326A>G (p.K109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65570758A>G" "" "benign" "" "0000251148" "0" "10" "1" "66102219" "66102219" "subst" "0.00162616" "02326" "LEPR_000018" "g.66102219A>T" "" "" "" "LEPR(NM_002303.5):c.3019A>T (p.S1007C), LEPR(NM_002303.6):c.3019A>T (p.S1007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65636536A>T" "" "benign" "" "0000251229" "0" "10" "1" "66031214" "66031214" "subst" "0.00412127" "02326" "LEPR_000001" "g.66031214A>T" "" "" "" "LEPR(NM_001003679.3):c.-20-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65565531A>T" "" "benign" "" "0000252512" "0" "90" "1" "66081746" "66081746" "subst" "1.62479E-5" "02326" "LEPR_000010" "g.66081746A>C" "" "" "" "LEPR(NM_001003679.3):c.2051A>C (p.H684P), LEPR(NM_002303.6):c.2051A>C (p.H684P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65616063A>C" "" "pathogenic" "" "0000282202" "0" "10" "1" "66075952" "66075952" "subst" "0.158799" "02325" "LEPR_000008" "g.66075952G>C" "" "" "" "LEPR(NM_001003679.3):c.1968G>C (p.K656N), LEPR(NM_002303.5):c.1968G>C (p.K656N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65610269G>C" "" "benign" "" "0000282203" "0" "10" "1" "66102257" "66102257" "subst" "0.456746" "02325" "LEPR_000019" "g.66102257G>A" "" "" "" "LEPR(NM_002303.5):c.3057G>A (p.P1019=), LEPR(NM_002303.6):c.3057G>A (p.P1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65636574G>A" "" "benign" "" "0000282204" "0" "10" "1" "66036501" "66036501" "subst" "0.999869" "02325" "LEPR_000003" "g.66036501G>T" "" "" "" "LEPR(NM_001003679.3):c.370+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65570818G>T" "" "benign" "" "0000285945" "0" "10" "1" "66067109" "66067109" "subst" "0.21805" "02326" "LEPR_000005" "g.66067109T>C" "" "" "" "LEPR(NM_001003679.3):c.1029T>C (p.S343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65601426T>C" "" "benign" "" "0000285946" "0" "90" "1" "66067306" "66067306" "subst" "0" "02326" "LEPR_000006" "g.66067306C>A" "" "" "" "LEPR(NM_001003679.3):c.1226C>A (p.A409E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65601623C>A" "" "pathogenic" "" "0000285947" "0" "30" "1" "66067326" "66067326" "subst" "0.000280867" "02326" "LEPR_000007" "g.66067326C>T" "" "" "" "LEPR(NM_001003679.3):c.1246C>T (p.H416Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65601643C>T" "" "likely benign" "" "0000285948" "0" "10" "1" "66075952" "66075952" "subst" "0.158799" "02326" "LEPR_000008" "g.66075952G>C" "" "" "" "LEPR(NM_001003679.3):c.1968G>C (p.K656N), LEPR(NM_002303.5):c.1968G>C (p.K656N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65610269G>C" "" "benign" "" "0000285949" "0" "70" "1" "66075969" "66075969" "subst" "0" "02326" "LEPR_000009" "g.66075969T>C" "" "" "" "LEPR(NM_002303.5):c.1985T>C (p.L662S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65610286T>C" "" "likely pathogenic" "" "0000285950" "0" "10" "1" "66081791" "66081791" "subst" "0.00243318" "02326" "LEPR_000011" "g.66081791C>T" "" "" "" "LEPR(NM_001003679.3):c.2096C>T (p.T699M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65616108C>T" "" "benign" "" "0000285951" "0" "70" "1" "66081863" "66081863" "subst" "0" "02326" "LEPR_000012" "g.66081863C>T" "" "" "" "LEPR(NM_002303.5):c.2168C>T (p.S723F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65616180C>T" "" "likely pathogenic" "" "0000285952" "0" "30" "1" "66083694" "66083694" "subst" "0.000553097" "02326" "LEPR_000013" "g.66083694G>A" "" "" "" "LEPR(NM_001003679.3):c.2260G>A (p.V754M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65618011G>A" "" "likely benign" "" "0000285953" "0" "10" "1" "66087156" "66087156" "subst" "0.00492358" "02326" "LEPR_000014" "g.66087156G>C" "" "" "" "LEPR(NM_001003679.3):c.2597+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65621473G>C" "" "benign" "" "0000285954" "0" "70" "1" "66088618" "66088618" "subst" "0" "02326" "LEPR_000015" "g.66088618C>A" "" "" "" "LEPR(NM_002303.5):c.2627C>A (p.P876Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65622935C>A" "" "likely pathogenic" "" "0000285955" "0" "10" "1" "66102187" "66102187" "subst" "0" "02326" "LEPR_000017" "g.66102187G>A" "" "" "" "LEPR(NM_002303.5):c.2987G>A (p.S996N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65636504G>A" "" "benign" "" "0000285956" "0" "10" "1" "66102257" "66102257" "subst" "0.456746" "02326" "LEPR_000019" "g.66102257G>A" "" "" "" "LEPR(NM_002303.5):c.3057G>A (p.P1019=), LEPR(NM_002303.6):c.3057G>A (p.P1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65636574G>A" "" "benign" "" "0000285957" "0" "10" "1" "66036501" "66036501" "subst" "0.999869" "02326" "LEPR_000003" "g.66036501G>T" "" "" "" "LEPR(NM_001003679.3):c.370+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65570818G>T" "" "benign" "" "0000285958" "0" "30" "1" "66038068" "66038068" "subst" "0.000152501" "02326" "LEPR_000004" "g.66038068G>T" "" "" "" "LEPR(NM_001003679.3):c.430G>T (p.V144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65572385G>T" "" "likely benign" "" "0000351329" "0" "70" "1" "66067366" "66067366" "subst" "0" "02327" "LEPR_000022" "g.66067366G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.65601683G>A" "" "likely pathogenic" "" "0000358024" "3" "30" "1" "66053158" "66054479" "del" "0" "00006" "LEPR_000023" "g.66053158_66054479del" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65587475_65588796del" "" "likely benign" "" "0000358025" "3" "90" "1" "66075687" "66075687" "subst" "0" "00006" "LEPR_000026" "g.66075687T>A" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65610004T>A" "" "pathogenic" "" "0000358026" "3" "90" "1" "66085610" "66085610" "subst" "0" "00006" "LEPR_000027" "g.66085610G>T" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65619927G>T" "" "pathogenic" "" "0000358027" "3" "90" "1" "66085610" "66085610" "subst" "0" "00006" "LEPR_000027" "g.66085610G>T" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65619927G>T" "" "pathogenic" "" "0000358028" "3" "90" "1" "66085610" "66085610" "subst" "0" "00006" "LEPR_000027" "g.66085610G>T" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65619927G>T" "" "pathogenic" "" "0000358029" "3" "90" "1" "66074507" "66074507" "subst" "0" "00006" "LEPR_000025" "g.66074507G>A" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65608824G>A" "" "pathogenic" "" "0000358036" "3" "90" "1" "66056233" "66115088" "delins" "0" "00006" "LEPR_000024" "g.66056233_66115088delinsGTGTGTATATGGGGG" "" "{PMID:Saeed 2015:26179253}" "" "" "" "Germline" "" "" "0" "" "" "g.65590550_65649405delinsGTGTGTATATGGGGG" "" "pathogenic" "" "0000508250" "0" "10" "1" "66058381" "66058381" "subst" "6.92385E-5" "02326" "LEPR_000029" "g.66058381G>A" "" "" "" "LEPR(NM_001003679.3):c.536G>A (p.G179D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65592698G>A" "" "benign" "" "0000508251" "0" "10" "1" "66058513" "66058513" "subst" "0.505471" "02326" "LEPR_000030" "g.66058513A>G" "" "" "" "LEPR(NM_001003679.3):c.668A>G (p.Q223R), LEPR(NM_002303.5):c.668A>G (p.Q223R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65592830A>G" "" "benign" "" "0000508253" "0" "30" "1" "66064470" "66064470" "subst" "3.6639E-5" "01943" "LEPR_000032" "g.66064470G>A" "" "" "" "LEPR(NM_001003679.3):c.977G>A (p.R326H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65598787G>A" "" "likely benign" "" "0000508255" "0" "30" "1" "66067326" "66067326" "subst" "0.000280867" "01943" "LEPR_000007" "g.66067326C>T" "" "" "" "LEPR(NM_001003679.3):c.1246C>T (p.H416Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65601643C>T" "" "likely benign" "" "0000508256" "0" "10" "1" "66067385" "66067385" "subst" "0.0178024" "02326" "LEPR_000034" "g.66067385G>A" "" "" "" "LEPR(NM_001003679.3):c.1285+20G>A, LEPR(NM_002303.5):c.1285+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.65601702G>A" "" "benign" "" "0000647768" "1" "50" "1" "65890990" "65890990" "subst" "0.0093001" "03575" "LEPR_000038" "g.65890990C>T" "9/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs13306523}" "Germline" "" "rs13306523" "0" "" "" "g.65425307C>T" "" "VUS" "" "0000717641" "0" "10" "1" "66031063" "66031063" "subst" "0" "02330" "LEPR_000039" "g.66031063G>A" "" "" "" "LEPR(NM_001003679.3):c.-20-166G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717642" "0" "50" "1" "66036438" "66036438" "subst" "4.4082E-6" "02330" "LEPR_000028" "g.66036438G>A" "" "" "" "LEPR(NM_001003679.3):c.323G>A (p.G108E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717643" "0" "10" "1" "66036441" "66036441" "subst" "0.29613" "02330" "LEPR_000002" "g.66036441A>G" "" "" "" "LEPR(NM_001003679.3):c.326A>G (p.K109R), LEPR(NM_001198688.1):c.326A>G (p.K109R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717644" "0" "10" "1" "66036501" "66036501" "subst" "0.999869" "02330" "LEPR_000003" "g.66036501G>T" "" "" "" "LEPR(NM_001003679.3):c.370+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717645" "0" "10" "1" "66037667" "66037672" "dup" "0" "02330" "LEPR_000040" "g.66037667_66037672dup" "" "" "" "LEPR(NM_001003679.3):c.371-342_371-337dupAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717646" "0" "10" "1" "66037993" "66037993" "subst" "0" "02330" "LEPR_000041" "g.66037993T>G" "" "" "" "LEPR(NM_001003679.3):c.371-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717647" "0" "30" "1" "66038009" "66038009" "subst" "0.000430641" "02330" "LEPR_000042" "g.66038009A>G" "" "" "" "LEPR(NM_001003679.3):c.371A>G (p.D124G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717648" "0" "50" "1" "66038068" "66038068" "subst" "0.000152501" "02330" "LEPR_000004" "g.66038068G>T" "" "" "" "LEPR(NM_001003679.3):c.430G>T (p.V144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717649" "0" "10" "1" "66058215" "66058215" "dup" "0" "02330" "LEPR_000043" "g.66058215dup" "" "" "" "LEPR(NM_001003679.3):c.495-125dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717650" "0" "10" "1" "66058439" "66058439" "subst" "0.000843239" "02330" "LEPR_000044" "g.66058439G>A" "" "" "" "LEPR(NM_001003679.3):c.594G>A (p.V198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717651" "0" "30" "1" "66058456" "66058456" "subst" "0.000187327" "02330" "LEPR_000045" "g.66058456A>G" "" "" "" "LEPR(NM_001003679.3):c.611A>G (p.K204R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717652" "0" "10" "1" "66058513" "66058513" "subst" "0.505471" "02330" "LEPR_000030" "g.66058513A>G" "" "" "" "LEPR(NM_001003679.3):c.668A>G (p.Q223R), LEPR(NM_002303.5):c.668A>G (p.Q223R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717653" "0" "30" "1" "66058523" "66058523" "subst" "0" "02330" "LEPR_000046" "g.66058523A>G" "" "" "" "LEPR(NM_001003679.3):c.678A>G (p.L226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717654" "0" "10" "1" "66058852" "66058853" "ins" "0" "02330" "LEPR_000047" "g.66058852_66058853insATTA" "" "" "" "LEPR(NM_001003679.3):c.703+304_703+305insATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717655" "0" "30" "1" "66064337" "66064337" "del" "0" "02330" "LEPR_000048" "g.66064337del" "" "" "" "LEPR(NM_001003679.3):c.850-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717656" "0" "50" "1" "66064414" "66064414" "subst" "0.000248066" "02330" "LEPR_000049" "g.66064414G>C" "" "" "" "LEPR(NM_001003679.3):c.921G>C (p.Q307H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717657" "0" "50" "1" "66064459" "66064459" "subst" "4.0703E-6" "02329" "LEPR_000031" "g.66064459G>T" "" "" "" "LEPR(NM_001003679.3):c.966G>T (p.W322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717658" "0" "10" "1" "66067109" "66067109" "subst" "0.21805" "02330" "LEPR_000005" "g.66067109T>C" "" "" "" "LEPR(NM_001003679.3):c.1029T>C (p.S343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717659" "0" "10" "1" "66067364" "66067364" "subst" "4.07867E-5" "02330" "LEPR_000050" "g.66067364T>C" "" "" "" "LEPR(NM_001003679.3):c.1284T>C (p.I428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717660" "0" "90" "1" "66070925" "66070925" "subst" "0" "02330" "LEPR_000051" "g.66070925G>T" "" "" "" "LEPR(NM_001003679.3):c.1603+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717661" "0" "30" "1" "66074428" "66074428" "subst" "4.09816E-6" "02330" "LEPR_000052" "g.66074428A>G" "" "" "" "LEPR(NM_001003679.3):c.1604-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717662" "0" "50" "1" "66074549" "66074549" "subst" "0" "02330" "LEPR_000053" "g.66074549C>A" "" "" "" "LEPR(NM_001003679.3):c.1717C>A (p.R573S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717663" "0" "70" "1" "66074586" "66074586" "subst" "0" "02330" "LEPR_000054" "g.66074586T>C" "" "" "" "LEPR(NM_001003679.3):c.1752+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717664" "0" "70" "1" "66075712" "66075712" "subst" "0.000377723" "02329" "LEPR_000037" "g.66075712G>A" "" "" "" "LEPR(NM_001003679.3):c.1835G>A (p.R612H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717665" "0" "10" "1" "66096031" "66096031" "subst" "0" "02330" "LEPR_000055" "g.66096031T>A" "" "" "" "LEPR(NM_001198687.2):c.2820T>A (p.P940=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717666" "0" "30" "1" "66096103" "66096105" "dup" "0" "02330" "LEPR_000056" "g.66096103_66096105dup" "" "" "" "LEPR(NM_001003680.3):c.*15_*17dupAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717667" "0" "10" "1" "66096104" "66096105" "dup" "0" "02330" "LEPR_000057" "g.66096104_66096105dup" "" "" "" "LEPR(NM_001198687.2):c.*16_*17dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717668" "0" "10" "1" "66096106" "66096106" "subst" "0" "02330" "LEPR_000058" "g.66096106G>A" "" "" "" "LEPR(NM_001198687.2):c.*18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717669" "0" "30" "1" "66101898" "66101898" "subst" "0.00101662" "02330" "LEPR_000059" "g.66101898A>G" "" "" "" "LEPR(NM_002303.6):c.2698A>G (p.I900V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717670" "0" "30" "1" "66102118" "66102118" "subst" "0.000101748" "02330" "LEPR_000060" "g.66102118C>A" "" "" "" "LEPR(NM_002303.6):c.2918C>A (p.T973N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717671" "0" "70" "1" "66102158" "66102158" "subst" "0" "02330" "LEPR_000061" "g.66102158C>G" "" "" "" "LEPR(NM_002303.6):c.2958C>G (p.Y986*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717672" "0" "50" "1" "66102163" "66102163" "subst" "3.25988E-5" "02330" "LEPR_000016" "g.66102163C>T" "" "" "" "LEPR(NM_002303.6):c.2963C>T (p.T988M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717673" "0" "50" "1" "66102177" "66102177" "subst" "2.03711E-5" "02330" "LEPR_000062" "g.66102177T>C" "" "" "" "LEPR(NM_002303.6):c.2977T>C (p.S993P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717674" "0" "30" "1" "66102219" "66102219" "subst" "0.00162616" "02330" "LEPR_000018" "g.66102219A>T" "" "" "" "LEPR(NM_002303.5):c.3019A>T (p.S1007C), LEPR(NM_002303.6):c.3019A>T (p.S1007C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717675" "0" "10" "1" "66102233" "66102233" "subst" "4.89185E-5" "02330" "LEPR_000063" "g.66102233G>A" "" "" "" "LEPR(NM_002303.6):c.3033G>A (p.K1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717676" "0" "30" "1" "66102385" "66102385" "subst" "0" "02330" "LEPR_000064" "g.66102385A>G" "" "" "" "LEPR(NM_002303.6):c.3185A>G (p.K1062R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717677" "0" "50" "1" "66102531" "66102531" "subst" "0" "02330" "LEPR_000065" "g.66102531A>G" "" "" "" "LEPR(NM_002303.6):c.3331A>G (p.T1111A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717678" "0" "50" "1" "66102614" "66102614" "dup" "0" "02330" "LEPR_000036" "g.66102614dup" "" "" "" "LEPR(NM_002303.6):c.3414dupT (p.A1139Cfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717679" "0" "30" "1" "66102617" "66102617" "subst" "0.00286993" "02330" "LEPR_000021" "g.66102617A>G" "" "" "" "LEPR(NM_002303.6):c.3417A>G (p.A1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717680" "0" "50" "1" "66102695" "66102696" "del" "0" "02330" "LEPR_000066" "g.66102695_66102696del" "" "" "" "LEPR(NM_002303.6):c.3495_3496delGT (p.*1166Ifs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717681" "0" "10" "1" "66103060" "66103061" "dup" "0" "02330" "LEPR_000067" "g.66103060_66103061dup" "" "" "" "LEPR(NM_002303.6):c.*361_*362dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799499" "0" "30" "1" "66031284" "66031284" "subst" "0.000682538" "02330" "LEPR_000068" "g.66031284T>C" "" "" "" "LEPR(NM_001003679.3):c.36T>C (p.H12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799500" "0" "10" "1" "66036244" "66036244" "subst" "8.12731E-6" "02330" "LEPR_000069" "g.66036244C>T" "" "" "" "LEPR(NM_001003679.3):c.129C>T (p.T43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799501" "0" "50" "1" "66036280" "66036280" "subst" "0" "02330" "LEPR_000070" "g.66036280G>C" "" "" "" "LEPR(NM_001003679.3):c.165G>C (p.K55N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799502" "0" "50" "1" "66036315" "66036315" "subst" "2.43787E-5" "02330" "LEPR_000071" "g.66036315C>A" "" "" "" "LEPR(NM_001003679.3):c.200C>A (p.A67D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799503" "0" "10" "1" "66095962" "66095962" "subst" "0.00638229" "01943" "LEPR_000072" "g.66095962A>C" "" "" "" "LEPR(NM_001003680.3):c.2751A>C (p.G917=), LEPR(NM_001198687.2):c.2751A>C (p.G917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799504" "0" "30" "1" "66102128" "66102128" "subst" "6.91991E-5" "02330" "LEPR_000073" "g.66102128C>T" "" "" "" "LEPR(NM_002303.6):c.2928C>T (p.D976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848820" "0" "90" "1" "66038054" "66038054" "subst" "0" "02330" "LEPR_000074" "g.66038054T>G" "" "" "" "LEPR(NM_001003679.3):c.416T>G (p.L139*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848821" "0" "30" "1" "66058466" "66058466" "subst" "8.14418E-6" "02330" "LEPR_000075" "g.66058466C>T" "" "" "" "LEPR(NM_001003679.3):c.621C>T (p.D207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848822" "0" "10" "1" "66067385" "66067385" "subst" "0.0178024" "02330" "LEPR_000034" "g.66067385G>A" "" "" "" "LEPR(NM_001003679.3):c.1285+20G>A, LEPR(NM_002303.5):c.1285+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848823" "0" "30" "1" "66074420" "66074420" "subst" "0.000539814" "02330" "LEPR_000076" "g.66074420T>C" "" "" "" "LEPR(NM_001003679.3):c.1604-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848824" "0" "10" "1" "66075952" "66075952" "subst" "0.158799" "02330" "LEPR_000008" "g.66075952G>C" "" "" "" "LEPR(NM_001003679.3):c.1968G>C (p.K656N), LEPR(NM_002303.5):c.1968G>C (p.K656N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848825" "0" "10" "1" "66096105" "66096105" "dup" "0" "02330" "LEPR_000077" "g.66096105dup" "" "" "" "LEPR(NM_001198687.2):c.*17dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848826" "0" "10" "1" "66096106" "66096106" "del" "0" "02330" "LEPR_000078" "g.66096106del" "" "" "" "LEPR(NM_001198687.2):c.*18delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848827" "0" "10" "1" "66102257" "66102257" "subst" "0.456746" "02330" "LEPR_000019" "g.66102257G>A" "" "" "" "LEPR(NM_002303.5):c.3057G>A (p.P1019=), LEPR(NM_002303.6):c.3057G>A (p.P1019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883557" "0" "90" "1" "66081746" "66081746" "subst" "1.62479E-5" "02330" "LEPR_000010" "g.66081746A>C" "" "" "" "LEPR(NM_001003679.3):c.2051A>C (p.H684P), LEPR(NM_002303.6):c.2051A>C (p.H684P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883558" "0" "30" "1" "66083654" "66083654" "subst" "4.48811E-5" "02330" "LEPR_000079" "g.66083654C>T" "" "" "" "LEPR(NM_001003679.3):c.2220C>T (p.I740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883559" "0" "10" "1" "66087156" "66087156" "subst" "0.00492358" "02330" "LEPR_000014" "g.66087156G>C" "" "" "" "LEPR(NM_001003679.3):c.2597+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883560" "0" "10" "1" "66095962" "66095962" "subst" "0.00638229" "02330" "LEPR_000072" "g.66095962A>C" "" "" "" "LEPR(NM_001003680.3):c.2751A>C (p.G917=), LEPR(NM_001198687.2):c.2751A>C (p.G917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883561" "0" "10" "1" "66102224" "66102224" "subst" "0.00390485" "02330" "LEPR_000035" "g.66102224A>G" "" "" "" "LEPR(NM_002303.6):c.3024A>G (p.S1008=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911120" "0" "30" "1" "66075989" "66075989" "subst" "0" "02330" "LEPR_000080" "g.66075989A>T" "" "" "" "LEPR(NM_002303.6):c.1995+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911121" "0" "50" "1" "66102531" "66102531" "subst" "0" "02329" "LEPR_000065" "g.66102531A>G" "" "" "" "LEPR(NM_002303.6):c.3331A>G (p.T1111A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923229" "0" "30" "1" "66102623" "66102623" "subst" "0.000157885" "02330" "LEPR_000081" "g.66102623C>T" "" "" "" "LEPR(NM_002303.6):c.3423C>T (p.Y1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933914" "0" "30" "1" "66036395" "66036395" "subst" "0" "03779" "LEPR_000082" "g.66036395G>A" "" "" "" "" "" "Unknown" "" "rs1290771402" "0" "" "" "" "" "likely benign" "" "0000947289" "0" "50" "1" "66074545" "66074545" "subst" "8.53381E-5" "02325" "LEPR_000083" "g.66074545G>T" "" "" "" "LEPR(NM_002303.6):c.1713G>T (p.Q571H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947290" "0" "30" "1" "66075647" "66075647" "subst" "0" "02330" "LEPR_000084" "g.66075647T>C" "" "" "" "LEPR(NM_002303.6):c.1770T>C (p.D590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947291" "0" "50" "1" "66075744" "66075744" "subst" "0" "02325" "LEPR_000085" "g.66075744A>C" "" "" "" "LEPR(NM_002303.6):c.1867A>C (p.S623R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961137" "0" "90" "1" "66075667" "66075667" "del" "0" "02330" "LEPR_000086" "g.66075667del" "" "" "" "LEPR(NM_002303.6):c.1790delG (p.S597Ifs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961138" "0" "30" "1" "66102227" "66102227" "subst" "0" "02330" "LEPR_000087" "g.66102227C>T" "" "" "" "LEPR(NM_002303.6):c.3027C>T (p.V1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974086" "0" "50" "1" "66036336" "66036336" "subst" "0" "02325" "LEPR_000088" "g.66036336C>T" "" "" "" "LEPR(NM_002303.6):c.221C>T (p.S74L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974087" "0" "30" "1" "66067289" "66067289" "subst" "2.44041E-5" "02330" "LEPR_000089" "g.66067289A>G" "" "" "" "LEPR(NM_002303.6):c.1209A>G (p.G403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991398" "0" "50" "1" "66067110" "66067110" "subst" "0.000256327" "02325" "LEPR_000033" "g.66067110G>A" "" "" "" "LEPR(NM_002303.6):c.1030G>A (p.V344I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024198" "0" "90" "1" "66062235" "66062235" "subst" "0" "02325" "LEPR_000090" "g.66062235C>T" "" "" "" "LEPR(NM_002303.6):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024199" "0" "90" "1" "66081746" "66081746" "subst" "1.62479E-5" "02325" "LEPR_000010" "g.66081746A>C" "" "" "" "LEPR(NM_001003679.3):c.2051A>C (p.H684P), LEPR(NM_002303.6):c.2051A>C (p.H684P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032162" "0" "50" "1" "66037995" "66038000" "dup" "0" "01804" "LEPR_000091" "g.66037995_66038000dup" "" "" "" "LEPR(NM_002303.6):c.371-14_371-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032163" "0" "50" "1" "66037996" "66038000" "dup" "0" "01804" "LEPR_000092" "g.66037996_66038000dup" "" "" "" "LEPR(NM_002303.6):c.371-13_371-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LEPR ## Count = 111 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000251101" "00011065" "10" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Lys109Arg)" "" "0000251148" "00011065" "10" "3019" "0" "3019" "0" "c.3019A>T" "r.(?)" "p.(Ser1007Cys)" "" "0000251229" "00011065" "10" "-20" "-15" "-20" "-15" "c.-20-15A>T" "r.(=)" "p.(=)" "" "0000252512" "00011065" "90" "2051" "0" "2051" "0" "c.2051A>C" "r.(?)" "p.(His684Pro)" "" "0000282202" "00011065" "10" "1968" "0" "1968" "0" "c.1968G>C" "r.(?)" "p.(Lys656Asn)" "" "0000282203" "00011065" "10" "3057" "0" "3057" "0" "c.3057G>A" "r.(?)" "p.(Pro1019=)" "" "0000282204" "00011065" "10" "370" "16" "370" "16" "c.370+16G>T" "r.(=)" "p.(=)" "" "0000285945" "00011065" "10" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Ser343=)" "" "0000285946" "00011065" "90" "1226" "0" "1226" "0" "c.1226C>A" "r.(?)" "p.(Ala409Glu)" "" "0000285947" "00011065" "30" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(His416Tyr)" "" "0000285948" "00011065" "10" "1968" "0" "1968" "0" "c.1968G>C" "r.(?)" "p.(Lys656Asn)" "" "0000285949" "00011065" "70" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Leu662Ser)" "" "0000285950" "00011065" "10" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Thr699Met)" "" "0000285951" "00011065" "70" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Ser723Phe)" "" "0000285952" "00011065" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Val754Met)" "" "0000285953" "00011065" "10" "2597" "15" "2597" "15" "c.2597+15G>C" "r.(=)" "p.(=)" "" "0000285954" "00011065" "70" "2627" "0" "2627" "0" "c.2627C>A" "r.(?)" "p.(Pro876Gln)" "" "0000285955" "00011065" "10" "2987" "0" "2987" "0" "c.2987G>A" "r.(?)" "p.(Ser996Asn)" "" "0000285956" "00011065" "10" "3057" "0" "3057" "0" "c.3057G>A" "r.(?)" "p.(Pro1019=)" "" "0000285957" "00011065" "10" "370" "16" "370" "16" "c.370+16G>T" "r.(=)" "p.(=)" "" "0000285958" "00011065" "30" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Val144Leu)" "" "0000351329" "00011065" "70" "1285" "1" "1285" "1" "c.1285+1G>A" "r.spl?" "p.?" "" "0000358024" "00011065" "30" "495" "-5182" "495" "-3861" "c.495-5182_495-3861del" "r.(?)" "p.(=)" "5i" "0000358025" "00011065" "90" "1810" "0" "1810" "0" "c.1810T>A" "r.(?)" "p.(Cys604Ser)" "13" "0000358026" "00011065" "90" "2396" "-1" "2396" "-1" "c.2396-1G>T" "r.spl" "p.?" "16i" "0000358027" "00011065" "90" "2396" "-1" "2396" "-1" "c.2396-1G>T" "r.spl" "p.?" "16i" "0000358028" "00011065" "90" "2396" "-1" "2396" "-1" "c.2396-1G>T" "r.spl" "p.?" "16i" "0000358029" "00011065" "90" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Trp558*)" "12" "0000358036" "00011065" "90" "495" "-2107" "15889" "0" "c.495-2107_*12391delinsGTGTGTATATGGGGGT" "r.?" "p.?" "5i_20_" "0000508250" "00011065" "10" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Gly179Asp)" "" "0000508251" "00011065" "10" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Gln223Arg)" "" "0000508253" "00011065" "30" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326His)" "" "0000508255" "00011065" "30" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(His416Tyr)" "" "0000508256" "00011065" "10" "1285" "20" "1285" "20" "c.1285+20G>A" "r.(=)" "p.(=)" "" "0000647768" "00011065" "50" "-92" "0" "-92" "0" "c.-92C>T" "" "p.(=)" "" "0000717641" "00011065" "10" "-20" "-166" "-20" "-166" "c.-20-166G>A" "r.(=)" "p.(=)" "" "0000717642" "00011065" "50" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Gly108Glu)" "" "0000717643" "00011065" "10" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(Lys109Arg)" "" "0000717644" "00011065" "10" "370" "16" "370" "16" "c.370+16G>T" "r.(=)" "p.(=)" "" "0000717645" "00011065" "10" "371" "-342" "371" "-337" "c.371-342_371-337dup" "r.(=)" "p.(=)" "" "0000717646" "00011065" "10" "371" "-16" "371" "-16" "c.371-16T>G" "r.(=)" "p.(=)" "" "0000717647" "00011065" "30" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asp124Gly)" "" "0000717648" "00011065" "50" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Val144Leu)" "" "0000717649" "00011065" "10" "495" "-125" "495" "-125" "c.495-125dup" "r.(=)" "p.(=)" "" "0000717650" "00011065" "10" "594" "0" "594" "0" "c.594G>A" "r.(?)" "p.(Val198=)" "" "0000717651" "00011065" "30" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Lys204Arg)" "" "0000717652" "00011065" "10" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Gln223Arg)" "" "0000717653" "00011065" "30" "678" "0" "678" "0" "c.678A>G" "r.(?)" "p.(Leu226=)" "" "0000717654" "00011065" "10" "703" "304" "703" "305" "c.703+304_703+305insATTA" "r.(=)" "p.(=)" "" "0000717655" "00011065" "30" "850" "-6" "850" "-6" "c.850-6del" "r.(=)" "p.(=)" "" "0000717656" "00011065" "50" "921" "0" "921" "0" "c.921G>C" "r.(?)" "p.(Gln307His)" "" "0000717657" "00011065" "50" "966" "0" "966" "0" "c.966G>T" "r.(?)" "p.(Trp322Cys)" "" "0000717658" "00011065" "10" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Ser343=)" "" "0000717659" "00011065" "10" "1284" "0" "1284" "0" "c.1284T>C" "r.(?)" "p.(Ile428=)" "" "0000717660" "00011065" "90" "1603" "5" "1603" "5" "c.1603+5G>T" "r.spl?" "p.?" "" "0000717661" "00011065" "30" "1604" "-8" "1604" "-8" "c.1604-8A>G" "r.(=)" "p.(=)" "" "0000717662" "00011065" "50" "1717" "0" "1717" "0" "c.1717C>A" "r.(?)" "p.(Arg573Ser)" "" "0000717663" "00011065" "70" "1752" "2" "1752" "2" "c.1752+2T>C" "r.spl?" "p.?" "" "0000717664" "00011065" "70" "1835" "0" "1835" "0" "c.1835G>A" "r.(?)" "p.(Arg612His)" "" "0000717665" "00011065" "10" "2674" "-5843" "2674" "-5843" "c.2674-5843T>A" "r.(=)" "p.(=)" "" "0000717666" "00011065" "30" "2674" "-5771" "2674" "-5769" "c.2674-5771_2674-5769dup" "r.(=)" "p.(=)" "" "0000717667" "00011065" "10" "2674" "-5770" "2674" "-5769" "c.2674-5770_2674-5769dup" "r.(=)" "p.(=)" "" "0000717668" "00011065" "10" "2674" "-5768" "2674" "-5768" "c.2674-5768G>A" "r.(=)" "p.(=)" "" "0000717669" "00011065" "30" "2698" "0" "2698" "0" "c.2698A>G" "r.(?)" "p.(Ile900Val)" "" "0000717670" "00011065" "30" "2918" "0" "2918" "0" "c.2918C>A" "r.(?)" "p.(Thr973Asn)" "" "0000717671" "00011065" "70" "2958" "0" "2958" "0" "c.2958C>G" "r.(?)" "p.(Tyr986*)" "" "0000717672" "00011065" "50" "2963" "0" "2963" "0" "c.2963C>T" "r.(?)" "p.(Thr988Met)" "" "0000717673" "00011065" "50" "2977" "0" "2977" "0" "c.2977T>C" "r.(?)" "p.(Ser993Pro)" "" "0000717674" "00011065" "30" "3019" "0" "3019" "0" "c.3019A>T" "r.(?)" "p.(Ser1007Cys)" "" "0000717675" "00011065" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Lys1011=)" "" "0000717676" "00011065" "30" "3185" "0" "3185" "0" "c.3185A>G" "r.(?)" "p.(Lys1062Arg)" "" "0000717677" "00011065" "50" "3331" "0" "3331" "0" "c.3331A>G" "r.(?)" "p.(Thr1111Ala)" "" "0000717678" "00011065" "50" "3414" "0" "3414" "0" "c.3414dup" "r.(?)" "p.(Ala1139CysfsTer16)" "" "0000717679" "00011065" "30" "3417" "0" "3417" "0" "c.3417A>G" "r.(?)" "p.(Ala1139=)" "" "0000717680" "00011065" "50" "3495" "0" "3496" "0" "c.3495_3496del" "r.(?)" "p.(*1166Ileext*13)" "" "0000717681" "00011065" "10" "3860" "0" "3861" "0" "c.*362_*363dup" "r.(=)" "p.(=)" "" "0000799499" "00011065" "30" "36" "0" "36" "0" "c.36T>C" "r.(?)" "p.(His12=)" "" "0000799500" "00011065" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Thr43=)" "" "0000799501" "00011065" "50" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Lys55Asn)" "" "0000799502" "00011065" "50" "200" "0" "200" "0" "c.200C>A" "r.(?)" "p.(Ala67Asp)" "" "0000799503" "00011065" "10" "2674" "-5912" "2674" "-5912" "c.2674-5912A>C" "r.(=)" "p.(=)" "" "0000799504" "00011065" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Asp976=)" "" "0000848820" "00011065" "90" "416" "0" "416" "0" "c.416T>G" "r.(?)" "p.(Leu139*)" "" "0000848821" "00011065" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Asp207=)" "" "0000848822" "00011065" "10" "1285" "20" "1285" "20" "c.1285+20G>A" "r.(=)" "p.(=)" "" "0000848823" "00011065" "30" "1604" "-16" "1604" "-16" "c.1604-16T>C" "r.(=)" "p.(=)" "" "0000848824" "00011065" "10" "1968" "0" "1968" "0" "c.1968G>C" "r.(?)" "p.(Lys656Asn)" "" "0000848825" "00011065" "10" "2674" "-5769" "2674" "-5769" "c.2674-5769dup" "r.(=)" "p.(=)" "" "0000848826" "00011065" "10" "2674" "-5768" "2674" "-5768" "c.2674-5768del" "r.(=)" "p.(=)" "" "0000848827" "00011065" "10" "3057" "0" "3057" "0" "c.3057G>A" "r.(?)" "p.(Pro1019=)" "" "0000883557" "00011065" "90" "2051" "0" "2051" "0" "c.2051A>C" "r.(?)" "p.(His684Pro)" "" "0000883558" "00011065" "30" "2220" "0" "2220" "0" "c.2220C>T" "r.(?)" "p.(Ile740=)" "" "0000883559" "00011065" "10" "2597" "15" "2597" "15" "c.2597+15G>C" "r.(=)" "p.(=)" "" "0000883560" "00011065" "10" "2674" "-5912" "2674" "-5912" "c.2674-5912A>C" "r.(=)" "p.(=)" "" "0000883561" "00011065" "10" "3024" "0" "3024" "0" "c.3024A>G" "r.(?)" "p.(Ser1008=)" "" "0000911120" "00011065" "30" "1995" "10" "1995" "10" "c.1995+10A>T" "r.(=)" "p.(=)" "" "0000911121" "00011065" "50" "3331" "0" "3331" "0" "c.3331A>G" "r.(?)" "p.(Thr1111Ala)" "" "0000923229" "00011065" "30" "3423" "0" "3423" "0" "c.3423C>T" "r.(?)" "p.(Tyr1141=)" "" "0000933914" "00011065" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Glu94Lys)" "" "0000947289" "00011065" "50" "1713" "0" "1713" "0" "c.1713G>T" "r.(?)" "p.(Gln571His)" "" "0000947290" "00011065" "30" "1770" "0" "1770" "0" "c.1770T>C" "r.(?)" "p.(=)" "" "0000947291" "00011065" "50" "1867" "0" "1867" "0" "c.1867A>C" "r.(?)" "p.(Ser623Arg)" "" "0000961137" "00011065" "90" "1790" "0" "1790" "0" "c.1790del" "r.(?)" "p.(Ser597Ilefs*20)" "" "0000961138" "00011065" "30" "3027" "0" "3027" "0" "c.3027C>T" "r.(?)" "p.(=)" "" "0000974086" "00011065" "50" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Ser74Leu)" "" "0000974087" "00011065" "30" "1209" "0" "1209" "0" "c.1209A>G" "r.(?)" "p.(=)" "" "0000991398" "00011065" "50" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Val344Ile)" "" "0001024198" "00011065" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270*)" "" "0001024199" "00011065" "90" "2051" "0" "2051" "0" "c.2051A>C" "r.(?)" "p.(His684Pro)" "" "0001032162" "00011065" "50" "371" "-14" "371" "-9" "c.371-14_371-9dup" "r.(=)" "p.(=)" "" "0001032163" "00011065" "50" "371" "-13" "371" "-9" "c.371-13_371-9dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000156125" "0000358024" "0000156125" "0000358036" "0000156126" "0000358025" "0000156127" "0000358026" "0000156128" "0000358027" "0000156129" "0000358028" "0000156130" "0000358029" "0000291079" "0000647768"